Jan Bartek – AncientPages.com –Â The enzyme AMPD1 is crucial for muscle energy production and maintaining normal muscular function. Genetic mutations leading to a loss of AMPD1 activity are the most prevalent cause of metabolic myopathy among Europeans, affecting 9% to 14% of the population.
Credit: Frank_Rietsch – Pixabay – Public Domain
A study published in Nature Communications examined ancient Neanderthal DNA alongside modern human genomes, discovering that all Neanderthals possessed a unique AMPD1 variant not found in other species. Laboratory tests showed this variant resulted in a 25% decrease in AMPD1 activity. When introduced into genetically engineered mice, the reduction was even more pronounced, reaching 80% within muscle tissue, which significantly impaired enzyme function.
The research further indicated that modern humans acquired this variant through interbreeding with Neanderthals around 50,000 years ago when they inhabited Europe and Western Asia. Presently, individuals of non-African descent have approximately 1% to 2% Neanderthal DNA.
Today, between 2% and 8% of Europeans carry the Neanderthal AMPD1 variant, indicating it is generally well-tolerated within this population group.
“Strikingly, most individuals who carry the variant do not experience significant health issues. However, the enzyme appears to play an important role in athletic performance,” explains Dominik Macak, the study’s first author. An analysis of more than 1,000 elite athletes across various sports revealed that individuals who carry a non-functional AMPD1 are less likely to become top-level athletes.
“Carrying a broken AMPD1 enzyme, the likelihood of reaching athletic performance is reduced by half,” Macak adds.
In summary, while AMPD1 activity may seem to have limited significance in modern Western societies, it plays a crucial role under extreme physical conditions, such as those faced by athletes. Researchers emphasize the importance of examining genetic variants within their physiological and evolutionary contexts to understand their biological effects fully. Studying how ancient gene variants impact human physiology today can provide valuable insights into health, performance, and genetic diversity.
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“It’s possible that cultural and technological advances in both modern humans and Neanderthals reduced the need for extreme muscle performance,” says senior author Hugo Zeberg.
The study was published in the journal Nature
Written by Jan Bartek – AncientPages.com Staff Writer
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